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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Fri Jan 01 2021
Journal Name
Ecology, Environment And Conservation
A qualitative study of Periphytic algae attached to thesurface of river boats in the Tigris River in AlAadhamiya, Baghdad, Iraq
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A seasonal study of periphytic algae attached to the surface of river boats was conducted in Tigris river in Al Aadhamiya site for the period from October 2016 to May 2017. A total of 107 taxa of periphytic algae were identified belonging to the four classes of algae. The periphytic algae community dominated by Bacillariophyceae was (60.7%) followed by Chlorophyceae (20.5%) and Cyanophyceae (17.7%) Chrysophyceae was constituted (0.9%) of the total number. During the whole period of study filamentous taxa such as Oscillatoria amphibian, Phormidium spp., Spirulinagigantean, Cladophoreglomerata and Melosira roeseana remained the dominant colonizer which may be reflect the ability of this species to grow multiplies under different environmental

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Publication Date
Thu Dec 01 2022
Journal Name
Journal Of Engineering
The Effectiveness of a Simulation Model of Thermal Insulation in Building Materials Using Cellulose Extracted from Agricultural Waste in Baghdad
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This study found that one of the constructive, necessary, beneficial, most effective, and cost-effective ways to meet the great challenge of rising energy prices is to develop and improve energy quality and efficiency. The process of improving the quality of energy and its means has been carried out in many buildings and around the world. It was found that the thermal insulation process in buildings and educational facilities has become the primary tool for improving energy efficiency, enabling us to improve and develop the internal thermal environment quality processes recommended for users (student - teacher). An excellent and essential empirical study has been conducted to calculate the fundamental values ​​of the

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Publication Date
Tue Jul 12 2016
Journal Name
World Journal Of Experimental Biosciences
Effect of honey and sodium bicarbonate on formation inhibition and removal of Staphylococcus aureus and Klebsiella pneumoniae biofilm in vitro
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Publication Date
Mon Feb 18 2019
Journal Name
Iraqi Journal Of Physics
Effect of annealing temperature and laser pulse energy on the optical properties of CuO films prepared by pulsed laser deposition
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In this work; copper oxide films (CuO) were fabricated by PLD. The films were analyzed by UV-VIS absorption spectra and their thickness by using profilometer. Pulsed Nd:YAG laser was used for prepared CuO thin films under O2 gas environment with varying both pulse energy and annealing temperature. The optical properties of   as-grown film such as optical transmittance spectrum, refractive index and energy gap has been measured experimentally and the effects of laser pulse energy  and annealing temperature on it were studied. An inverse relationship between energy gap and both annealing temperature and pulse energy was observed.

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Publication Date
Mon Dec 30 2024
Journal Name
Iraqi Journal Of Science
The Impact of Fear and Anti-Predator Behavior on the Dynamics of Stage-Structure Prey–Predator Model With a Harvesting
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In this paper, an ecological model with stage-structure in prey population, fear, anti-predator and harvesting are suggested. Lotka-Volterra and Holling type II functional responses have been assumed to describe the feeding processes . The local and global stability of steady points of this model are established. Finally, the global dynamics are studied numerically to investigate the influence of the parameters on the solutions of the system, especially the effect of fear and anti-predation.

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Publication Date
Fri Mar 11 2016
Journal Name
International Journal Of Applied Linguistics And English Literature
The Illusion of Untranslatability: A Theoretical Perspective with Reference to the Translation of Culture-Bound Euphemistic Expressions in the Qur'an
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The present study investigates the notion of untranslatability where the concept of equivalence is reconsidered since the misconceptions, related to the said concept, inevitably lead to the emergence of untranslatability. Identifying equivalence as relative, approximate and necessary identity makes the notion of untranslatability a mere theorization. The objectives of the present study are (1) to investigate the notion of untranslatability in terms of the misconceptions associated with the concept of equivalence (2) to examine the possibility of translatability from Arabic into English focusing on culture-bound euphemistic expressions in the Quran as an area of challenge in translation. Data on the translation of culture-bound euphemistic e

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Publication Date
Wed Jun 01 2022
Journal Name
Canadian Journal Of Chemistry
Hydrogenation of pyridine and hydrogenolysis of piperidine over <i>γ-</i>Mo<sub>2</sub>N catalyst: a DFT study
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Increasing demands on producing environmentally friendly products are becoming a driving force for designing highly active catalysts. Thus, surfaces that efficiently catalyse the nitrogen reduction reactions are greatly sought in moderating air-pollutant emissions. This contribution aims to computationally investigate the hydrodenitrogenation (HDN) networks of pyridine over the γ-Mo2N(111) surface using a density functional theory (DFT) approach. Various adsorption configurations have been considered for the molecularly adsorbed pyridine. Findings indicate that pyridine can be adsorbed via side-on and end-on modes in six geometries in which one adsorption site is revealed to have the lowest adsorption energy (

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Publication Date
Tue Aug 03 2021
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The impact of creative accounting practices that are reflected on the sincerity and fairness of financial statements on tax evasion
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The research aims to achieve a set of objectives, the most important of which is to educate the management of companies operating in the private sector about the advantages and risks of using creative accounting practices, as on the one hand they serve the interests of the company and improve its image, and on the other hand it exposes it to the risks of non-compliance with tax laws and legislation or the risks of default and bankruptcy as a result of exploiting gaps and flexibility in the application Accounting standards, and in line with the objectives and through the research problem that was formulated in the form of a question (Are their creative accounting practices that are reflected in the honesty and fairness of financia

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Publication Date
Wed Dec 15 2010
Journal Name
Iraqi Journal Of Laser
Evaluation the Effect of 805 nm Wavelength Diode Laser on Repair of Mandibular Bone Repair and Skin Incisions in Rabbits
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The long healing time of bone after tooth extraction in order to construct artificial teeth is uncomfortable to the patient because of aesthetic or masticatory problems in addition to the daily visit to dental clinic. The objective of this study was to evaluate the effect of 805 nm diode laser with long time intervals on repair of bone and skin incisions in rabbits through biochemical, radiological and histological findings. Eighteen New-Zealand rabbits were undergone surgical operations to make a cavity in the bone of the lower jaw, the rabbits were divided into two groups:- Group A (control group) containing nine rabbits. Group B (lased group) containing nine rabbits in which two cavities were done, one on the right side and the other

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Preparation of superposed thin film (CdTe)1-xSex / ZnS and Studying the Effect of Concentration on Some its Electrical Properties.
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Preparation of superposed thin film (CdTe)1-xSex / ZnS) with concentration of (x= 0.1, 0.3, 0.5) at a temperature of substrate (Ts= 80 0C) by using Thermal Vacuum Evaporation System. The measurement of X-ray diffraction shows that the compounds CdTe, ZnS, (CdTe)1-xSex and (CdTe)1-xSex / ZnS have a polycrystalline structure, the C-V characteristic shows that the capacitance degrease by increasing the concentration (x) in reverse bias, while the I-V characteristic shows the current dark (Id) increase in forward and reverse bias by increasing (x) and the photocurrent (Iph) increase in reverse bias by increasing the concentration (x), the values of photocurrent are greater than from the values of the dark current for all concentrations

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